Reviewed, UniProtKB/Swiss-Prot Q8NBL1 (KTEL1_HUMAN)

Names and origin

Protein names

Recommended name:
    KTEL motif-containing protein 1
Alternative name(s):
    CAP10-like 46 kDa protein
    Myelodysplastic syndromes relative protein

Gene names

Name:	KTELC1
Synonyms:	C3orf9, CLP46, MDSRP
ORF Names:	MDS010, UNQ490/PRO1006

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	392 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May be involved in important physiological functions in the liver.
Subcellular location	Endoplasmic reticulum lumen.
Tissue specificity	Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine.
Miscellaneous	Possess the ability of promoting cell proliferation.
Sequence similarities	Belongs to the CAP10 family.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum
Coding sequence diversity	Polymorphism
Domain	Signal
Technical term	Direct protein sequencing
Gene Ontology (GO)
Cellular component	endoplasmic reticulum Inferred from electronic annotation. Source: UniProtKB-KW endoplasmic reticulum lumen Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23	Ref.6
	Chain	24 – 392	369	KTEL motif-containing protein 1		PRO_0000246685
Regions
	Motif	389 – 392	4	Prevents secretion from ER Potential
Natural variations
	Natural variant	75	1	K → R: dbSNP rs11556605. Ref.5		VAR_027041
	Natural variant	229	1	P → T: dbSNP rs17852785. Ref.5		VAR_027042
Experimental info
	Sequence conflict	287	1	G → D in BAD96657. Ref.4
	Sequence conflict	371	1	S → P in BAD96657. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q8NBL1-1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 25B0370757A6B224	FASTA	392	46,189
	10 20 30 40 50 60 MEWWASSPLR LWLLLFLLPS AQGRQKESGS KWKVFIDQIN RSLENYEPCS SQNCSCYHGV 70 80 90 100 110 120 IEEDLTPFRG GISRKMMAEV VRRKLGTHYQ ITKNRLYREN DCMFPSRCSG VEHFILEVIG 130 140 150 160 170 180 RLPDMEMVIN VRDYPQVPKW MEPAIPVFSF SKTSEYHDIM YPAWTFWEGG PAVWPIYPTG 190 200 210 220 230 240 LGRWDLFRED LVRSAAQWPW KKKNSTAYFR GSRTSPERDP LILLSRKNPK LVDAEYTKNQ 250 260 270 280 290 300 AWKSMKDTLG KPAAKDVHLV DHCKYKYLFN FRGVAASFRF KHLFLCGSLV FHVGDEWLEF 310 320 330 340 350 360 FYPQLKPWVH YIPVKTDLSN VQELLQFVKA NDDVAQEIAE RGSQFIRNHL QMDDITCYWE 370 380 390 NLLSEYSKFL SYNVTRRKGY DQIIPKMLKT EL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, expression and characterization of a novel human CAP10-like gene hCLP46 from CD34+ stem/progenitor cells." Teng Y., Liu Q., Ma J., Liu F., Han Z., Wang Y., Wang W. Gene 371:7-15(2006) [PubMed: 16524674] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Hematopoietic stem cell.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed: 16303743] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[4]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ARG-75 AND THR-229. Tissue: Fetal brain and Hypothalamus.
[6]	"Signal peptide prediction based on analysis of experimentally verified cleavage sites." Zhang Z., Henzel W.J. Protein Sci. 13:2819-2824(2004) [PubMed: 15340161] [Abstract] Cited for: PROTEIN SEQUENCE OF 24-38.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY298903 mRNA. Translation: AAP56253.1. AY358581 mRNA. Translation: AAQ88944.1. AK075444 mRNA. Translation: BAC11625.1. AK222937 mRNA. Translation: BAD96657.1. BC030614 mRNA. Translation: AAH30614.1. BC048810 mRNA. Translation: AAH48810.1.
IPI	IPI00301163.
RefSeq	NP_689518.1.
UniGene	Hs.231750
3D structure databases
ModBase	Search...
Protein family/group databases
CAZy	GT90. Glycosyltransferase Family 90.
Proteomic databases
PRIDE	Q8NBL1.
Genome annotation databases
Ensembl	ENSG00000163389. Homo sapiens. [Contig view]
GeneID	56983.
KEGG	hsa:56983.
Organism-specific databases
GeneCards	GC03P120672.
HGNC	HGNC:22954. KTELC1.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q8NBL1.
OMA	Q8NBL1. DEWQEFF.
Gene expression databases
ArrayExpress	Q8NBL1.
Bgee	Q8NBL1.
CleanEx	HS_KTELC1.
GermOnline	ENSG00000163389. Homo sapiens.
Family and domain databases
InterPro	IPR006598. CAP10. IPR008539. DUF821_CAP10-like. IPR000886. ER_targeting_sequence. [Graphical view]
Pfam	PF05686. DUF821. 1 hit. [Graphical view]
SMART	SM00672. CAP10. 1 hit. [Graphical view]
PROSITE	PS00014. ER_TARGET. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	62657.

Entry information

Entry name

KTEL1_HUMAN

Accession

Primary (citable) accession number: Q8NBL1
Secondary accession number(s): Q53GJ4, Q8N2T1

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 25, 2006
Last sequence update:	October 1, 2002
Last modified:	June 16, 2009
This is version 59 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)